Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Works by Han-Wook Yoo
Results: 157
1
2
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
- Published in:
- 2009
- By:
- Publication type:
- journal article
3
Comparison of the effectiveness of recombinant human growth hormone therapy in preterm and full-term children with short stature born small for gestational age.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2025, v. 30, n. 3, p. 140, doi. 10.6065/apem.2448128.064
- By:
- Publication type:
- Article
4
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
- Published in:
- Liver International, 2011, v. 31, n. 6, p. 833, doi. 10.1111/j.1478-3231.2011.02503.x
- By:
- Publication type:
- Article
5
Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors.
- Published in:
- Journal of Neuro-Oncology, 2018, v. 138, n. 1, p. 55, doi. 10.1007/s11060-018-2765-0
- By:
- Publication type:
- Article
6
Development of SNP-based human identification system.
- Published in:
- International Journal of Legal Medicine, 2010, v. 124, n. 2, p. 125, doi. 10.1007/s00414-009-0389-9
- By:
- Publication type:
- Article
7
Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency: Hepatosplenomegaly and Nephromegaly.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. e19, doi. 10.1097/MPG.0b013e3182a95a42
- By:
- Publication type:
- Article
8
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
- Published in:
- 2009
- By:
- Publication type:
- journal article
9
Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report.
- Published in:
- Annals of Rehabilitation Medicine, 2019, v. 43, n. 5, p. 621, doi. 10.5535/arm.2019.43.5.621
- By:
- Publication type:
- Article
10
Correction to: SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
11
SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
- Published in:
- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13287-020-01709-4
- By:
- Publication type:
- Article
12
Clinical course and endocrinological characteristics of prolactinoma in children and adolescents.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
13
Congenital lipoid adrenal hyperplasia in twin sisters.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
14
Giant bilateral symptomatic adrenal myelolipomas manifested in an adult with congetnial adrenal hyperplasia.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
15
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 Gene mutation.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
16
Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
17
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
18
Management of rasopathies.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
19
Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects.
- Published in:
- 2019
- By:
- Publication type:
- Abstract
20
Molecular and Clinical Characterization of Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 6, p. 707
- By:
- Publication type:
- Article
21
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
- Published in:
- 2020
- By:
- Publication type:
- journal article
22
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
23
Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial.
- Published in:
- 2019
- By:
- Publication type:
- journal article
24
Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.
- Published in:
- Movement Disorders, 2008, v. 23, n. 15, p. 2251, doi. 10.1002/mds.22337
- By:
- Publication type:
- Article
25
Focal hand dystonia in a patient with PANK2 mutation.
- Published in:
- Movement Disorders, 2008, v. 23, n. 3, p. 466, doi. 10.1002/mds.21880
- By:
- Publication type:
- Article
26
A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 7, p. 1396, doi. 10.1002/ajh.27302
- By:
- Publication type:
- Article
27
A Novel Small Insertion Mutation, C.1030_1031ins (T) in α-Galactosidase A Leads to Renal Variant Fabry Disease.
- Published in:
- Renal Failure, 2012, v. 34, n. 3, p. 390, doi. 10.3109/0886022X.2011.647300
- By:
- Publication type:
- Article
28
A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex.
- Published in:
- 2014
- By:
- Publication type:
- Letter
29
Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug Efficacy.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 4, p. 872, doi. 10.3390/cells9040872
- By:
- Publication type:
- Article
30
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
- By:
- Publication type:
- Article
31
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 7, p. 395, doi. 10.1038/jhg.2015.30
- By:
- Publication type:
- Article
32
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16
- By:
- Publication type:
- Article
33
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67
- By:
- Publication type:
- Article
34
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 62, doi. 10.1038/jhg.2011.116
- By:
- Publication type:
- Article
35
Low prevalence of classical galactosemia in Korean population.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152
- By:
- Publication type:
- Article
36
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 1, p. 18, doi. 10.1038/jhg.2009.113
- By:
- Publication type:
- Article
37
Identification of 15 loci influencing height in a Korean population.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 1, p. 27, doi. 10.1038/jhg.2009.116
- By:
- Publication type:
- Article
38
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 999, doi. 10.1007/s10038-008-0343-6
- By:
- Publication type:
- Article
39
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 12, p. 648, doi. 10.1007/s10038-005-0312-2
- By:
- Publication type:
- Article
40
Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 10, p. 536, doi. 10.1007/s10038-004-0186-8
- By:
- Publication type:
- Article
41
Metabolic Impacts of Discontinuation and Resumption of Recombinant Human Growth Hormone Treatment during the Transition Period in Patients with Childhood-Onset Growth Hormone Deficiency.
- Published in:
- Endocrinology & Metabolism, 2022, v. 37, n. 2, p. 359, doi. 10.3803/EnM.2021.1384
- By:
- Publication type:
- Article
42
Identification of a novel human Rad51 variant that promotes DNA strand exchange.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 10, p. 3226, doi. 10.1093/nar/gkn171
- By:
- Publication type:
- Article
43
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038
- By:
- Publication type:
- Article
44
Enhanced SMAD1 Signaling Contributes to Impairments of Early Development in CFC-i PSCs.
- Published in:
- Stem Cells, 2015, v. 33, n. 5, p. 1447, doi. 10.1002/stem.1963
- By:
- Publication type:
- Article
45
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
- Published in:
- 2018
- By:
- Publication type:
- journal article
46
Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.
- Published in:
- JBMR Plus, 2023, v. 7, n. 6, p. 1, doi. 10.1002/jbm4.10744
- By:
- Publication type:
- Article
47
First‐in‐Asian Phase I Study of the Anti‐Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X‐linked Hypophosphatemia.
- Published in:
- JBMR Plus, 2019, v. 3, n. 2, p. N.PAG, doi. 10.1002/jbm4.10074
- By:
- Publication type:
- Article
48
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
49
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
- Published in:
- Clinical Endocrinology, 2015, v. 83, n. 6, p. 790, doi. 10.1111/cen.12944
- By:
- Publication type:
- Article
50
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
- Published in:
- Clinical Endocrinology, 2011, v. 75, n. 2, p. 207, doi. 10.1111/j.1365-2265.2011.04026.x
- By:
- Publication type:
- Article